MCID: MYP007
MIFTS: 26

Myopathy Due to Cpt Ii Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Myopathy Due to Cpt Ii Deficiency

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Aliases & Descriptions for Myopathy Due to Cpt Ii Deficiency:

Name: Myopathy Due to Cpt Ii Deficiency 49 11
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 65
Carnitine Palmitoyltransferase 2 Deficiency Late-Onset 67
Carnitine Palmitoyltransferase Ii Deficiency 67
 
Cpt-Ii Deficiency 67
Cpt2 Deficiency 67
Cpt2d 67


Classifications:



External Ids:

OMIM49 255110
MedGen34 C1833508

Summaries for Myopathy Due to Cpt Ii Deficiency

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UniProtKB/Swiss-Prot:67 Carnitine palmitoyltransferase 2 deficiency late-onset: Autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.

MalaCards based summary: Myopathy Due to Cpt Ii Deficiency, also known as carnitine palmitoyltransferase ii deficiency, late-onset, is related to carnitine palmitoyltransferase ii deficiency and cpt deficiency, hepatic, type ii, and has symptoms including muscle weakness, myopathy and myalgia. An important gene associated with Myopathy Due to Cpt Ii Deficiency is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include liver.

OMIM:49 Carnitine palmitoyltransferase II deficiency is the most common inherited disorder of mitochondrial long-chain fatty... (255110) more...

Related Diseases for Myopathy Due to Cpt Ii Deficiency

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Graphical network of diseases related to Myopathy Due to Cpt Ii Deficiency:



Diseases related to myopathy due to cpt ii deficiency

Symptoms for Myopathy Due to Cpt Ii Deficiency

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Symptoms by clinical synopsis from OMIM:

255110

Clinical features from OMIM:

255110

HPO human phenotypes related to Myopathy Due to Cpt Ii Deficiency:

(show all 12)
id Description Frequency HPO Source Accession
1 muscle weakness hallmark (90%) HP:0001324
2 myopathy hallmark (90%) HP:0003198
3 myalgia hallmark (90%) HP:0003326
4 renal insufficiency typical (50%) HP:0000083
5 autosomal recessive inheritance HP:0000007
6 renal insufficiency HP:0000083
7 muscle weakness HP:0001324
8 myoglobinuria HP:0002913
9 rhabdomyolysis HP:0003201
10 myalgia HP:0003326
11 muscle cramps HP:0003394
12 muscle stiffness HP:0003552

Drugs & Therapeutics for Myopathy Due to Cpt Ii Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myopathy Due to Cpt Ii Deficiency

Genetic Tests for Myopathy Due to Cpt Ii Deficiency

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Anatomical Context for Myopathy Due to Cpt Ii Deficiency

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MalaCards organs/tissues related to Myopathy Due to Cpt Ii Deficiency:

33
Liver

Animal Models for Myopathy Due to Cpt Ii Deficiency or affiliated genes

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Publications for Myopathy Due to Cpt Ii Deficiency

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Variations for Myopathy Due to Cpt Ii Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

67 (show all 20)
id Symbol AA change Variation ID SNP ID
1CPT2p.Pro50HisVAR_001391rs28936674
2CPT2p.Ser113LeuVAR_001392rs74315294
3CPT2p.Glu174LysVAR_001393rs28936674
4CPT2p.Phe383TyrVAR_001396rs28936673
5CPT2p.Asp553AsnVAR_001397rs28936376
6CPT2p.Tyr628SerVAR_001398rs28936673
7CPT2p.Arg631CysVAR_001399
8CPT2p.Met214ThrVAR_007966
9CPT2p.Pro227LeuVAR_007967
10CPT2p.Phe448LeuVAR_007968
11CPT2p.Tyr479PheVAR_007969
12CPT2p.Arg503CysVAR_007970
13CPT2p.Gly549AspVAR_007971rs186044004
14CPT2p.Arg151GlnVAR_020540
15CPT2p.Tyr210AspVAR_020541
16CPT2p.Arg296GlnVAR_020542
17CPT2p.Gln550ArgVAR_020543
18CPT2p.Gly600ArgVAR_020544
19CPT2p.Pro604SerVAR_020545
20CPT2p.Asp213GlyVAR_037976

Clinvar genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.886C> T (p.Arg296Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727503887GRCh37Chr 1, 53676232: 53676232
2CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)single nucleotide variantPathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
3CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)single nucleotide variantPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
4CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)single nucleotide variantPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
5CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)single nucleotide variantPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
6CPT2NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn)single nucleotide variantPathogenicrs28936376GRCh37Chr 1, 53678947: 53678947
7CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)single nucleotide variantPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
8CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)single nucleotide variantPathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
9CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)single nucleotide variantPathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
10CPT2NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter)single nucleotide variantPathogenicrs74315299GRCh37Chr 1, 53676706: 53676706
11CPT2NM_000098.2(CPT2): c.638A> G (p.Asp213Gly)single nucleotide variantPathogenicrs74315300GRCh37Chr 1, 53675984: 53675984
12CPT2NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs)deletionPathogenicrs397509431GRCh37Chr 1, 53676585: 53676586

Expression for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Search GEO for disease gene expression data for Myopathy Due to Cpt Ii Deficiency.

Pathways for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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GO Terms for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Sources for Myopathy Due to Cpt Ii Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet